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Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by elastorrhexis, or progressive calcification and fragmentation, of elastic fibers primarily affecting the skin, the retina, and the cardiovascular system. Usually, pseudoxanthoma elasticum affects the skin first, often in childhood but frequently later. Small, yellowish papular lesions form and cutaneous laxity mainly affects the neck, axillae (armpits), groin, and flexural creases (the inside parts of the elbows and knees). Skin may become lax and redundant. Many individuals have ""oblique mental creases"". PXE first affects the retina through a dimpling of the Bruch membrane, that is only visible during ophthalmologic examinations. Eventually the mineralization of the elastic fibers in the Bruch membrane creates cracks (angioid streaks) that radiate out from the optic nerve. Angioid streaks themselves do not cause distortion of vision, even if they cross into the foveal area. This symptom is present in almost all PXE patients and is usually noticed a few years after the onset of cutaneous lesions. These cracks may allow small blood vessels that were originally held back by Bruch's membrane to penetrate the retina. These blood vessels sometimes leak, and these retinal hemorrhages may lead to the loss of central vision. Vision loss is a major issue in many PXE patients. PXE may affect the gastrointestinal and cardiovascular systems. In the digestive tract, the principal symptom is gastrointestinal bleeding, usually from the stomach. This occurs in very small number of patients. In the circulatory system, intermittent claudication is a prominent feature, although at later stages coronary artery disease may develop, leading to angina and myocardial infarction (heart attack) may occur.
HOW IS PSEUDOXANTHOMA ELASTICUM DIAGNOSED?
A general physician would observe these symptoms and test your blood and urine for these heightened levels of calcium along with doing scans.
HOW IS PSEUDOXANTHOMA ELASTICUM TREATED?
The dermatologist will conduct a thorough physical examination. Vision impairment may not take place for people affected with Pseudoxanthoma Elasticum, but the doctor can ask for a detailed eye examination also, just to be sure. Genetic tests can also be done to understand the full status of the condition.
DID YOU KNOW?
Such patients need constant monitoring to prevent these bumps from getting deeper and causing internal damage to organs and tissues.